NM_000390.4(CHM):c.130G>T (p.Gly44Ter) AND not provided
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Dec 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000259262.2
Allele description [Variation Report for NM_000390.4(CHM):c.130G>T (p.Gly44Ter)]
NM_000390.4(CHM):c.130G>T (p.Gly44Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: May 12, 2024